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Osteogenesis imperfecta: diagnosis and treatment.
Palomo T, Vilaça T, Lazaretti-Castro M. Palomo T, et al. Curr Opin Endocrinol Diabetes Obes. 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367. Curr Opin Endocrinol Diabetes Obes. 2017. PMID: 28863000 Review.
PURPOSE OF REVIEW: Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults. RECENT FINDINGS: Mutations in the two g …
PURPOSE OF REVIEW: Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in o …
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
Van Dijk FS, Sillence DO. Van Dijk FS, et al. Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715559 Free PMC article. Review.
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. ...
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed w …
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. ...The prenatal features of the most common skeletal dysplasias …
The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities af …
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ. Barron MJ, et al. Orphanet J Rare Dis. 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. Orphanet J Rare Dis. 2008. PMID: 19021896 Free PMC article. Review.
DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. ...Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI …
DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. ...Currently, thr …
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M. Colombi M, et al. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821090 Review.
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. ...In this review, we revise the differential diagnosis of JH …
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recogn …
Early Life Management of Osteogenesis Imperfecta.
Arundel P, Borg SA. Arundel P, et al. Curr Osteoporos Rep. 2023 Dec;21(6):779-786. doi: 10.1007/s11914-023-00823-5. Epub 2023 Sep 26. Curr Osteoporos Rep. 2023. PMID: 37752354 Free PMC article. Review.
PURPOSE OF REVIEW: This review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfecta (OI) during the first year of life, focusing on those with severe disease. ...
PURPOSE OF REVIEW: This review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfect …
Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice.
Cozzolino M, Perelli F, Maggio L, Coccia ME, Quaranta M, Gizzo S, Mecacci F. Cozzolino M, et al. Arch Gynecol Obstet. 2016 Jun;293(6):1153-9. doi: 10.1007/s00404-016-4012-2. Epub 2016 Jan 18. Arch Gynecol Obstet. 2016. PMID: 26781260 Review.
PURPOSE: Osteogenesis imperfecta (OI) is a rare heritable heterogenous disorder characterized by bone fragility and susceptibility to fractures with a wide spectrum of clinical expression due to defects in collagen type I biosynthesis. The purpose of the revi …
PURPOSE: Osteogenesis imperfecta (OI) is a rare heritable heterogenous disorder characterized by bone fragility and susceptibi …
Osteogenesis imperfecta.
Kocher MS, Shapiro F. Kocher MS, et al. J Am Acad Orthop Surg. 1998 Jul-Aug;6(4):225-36. doi: 10.5435/00124635-199807000-00004. J Am Acad Orthop Surg. 1998. PMID: 9682085 Review.
Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue characterized by bone fragility. The disease state encompasses a phenotypically and genotypically heterogeneous group of inherited disorders that result from mutations in the gene …
Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue characterized by bone fragility. The di …
What is new in genetics and osteogenesis imperfecta classification?
Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B. Valadares ER, et al. J Pediatr (Rio J). 2014 Nov-Dec;90(6):536-41. doi: 10.1016/j.jped.2014.05.003. Epub 2014 Jul 18. J Pediatr (Rio J). 2014. PMID: 25046257 Free article. Review.
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence …
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: L …
Hereditary dentin defects with systemic diseases.
Su T, Zhu Y, Wang X, Zhu Q, Duan X. Su T, et al. Oral Dis. 2023 Sep;29(6):2376-2393. doi: 10.1111/odi.14589. Epub 2023 Apr 24. Oral Dis. 2023. PMID: 37094075 Review.
The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared. RESULTS: Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumoral calcinosis, …
The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared. RESULTS: Over 10 systemic di …
34 results